Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype-Reference-Cited by-同舟云学术

Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

Published:2005 Issue:3 Volume:137A Page:308-312
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Grange Dorothy K.,Garcia-Heras Jaime,Kilani Ramzi A.,Lamp Stephen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Risk assessment and segregation analysis in a pericentric inversion inv(6)(p23q25) carrier using FISH on decondensed sperm nuclei

2. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses

3. Partial trisomy 20p resulting from a recombination of a familial pericentric inversion

4. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017

2. Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications;American Journal of Medical Genetics Part A;2014-06-20

3. SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication;European Journal of Medical Genetics;2014-03

4. Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20;American Journal of Medical Genetics Part A;2010-02

5. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus;American Journal of Medical Genetics Part A;2010